title: Growth and psychomotor development of patients with Duchenne muscular dystrophy.
abstract: Duchenne muscular dystrophy (DMD) is one of the most common hereditary degenerative neuromuscular diseases and caused by mutations in the dystrophin gene. The objective of the retrospective study was to describe growth and psychomotor development of patients with DMD and to detect a possible genotype-phenotype correlation. Data from 263 patients with DMD (mean age 7.1 years) treated at the Departments of Pediatric Neurology in three German University Hospitals was assessed with respect to body measurements (length, weight, body mass index BMI, head circumference OFC), motor and cognitive development as well as genotype (site of mutation). Anthropometric measures and developmental data were compared to those of a reference population and deviations were analyzed for their frequency in the cohort as well as in relation to the genotypes. Corticosteroid therapy was implemented in 29 from 263 patients. Overall 30% of the patients exhibit a short statue (length < 3rd centile) with onset early in development at 2-5 years of age, and this is even more prevalent when steroid therapy is applied (45% of patients with steroid therapy). The BMI shows a rightwards shift (68% > 50th centile) and the OFC a leftwards shift (65% < 50th centile, 5% microcephaly). Gross motor development is delayed in a third of the patients (mean age at walking 18.3 months, 30% > 18 months, 8% > 24 months). Almost half of the patients show cognitive impairment (26% learning disability, 17% intellectual disability). Although there is no strict genotype-phenotype correlation, particularly mutations in the distal part of the dystrophin gene are frequently associated with short stature and a high rate of microcephaly as well as cognitive impairment.
authors.affiliation: Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany; SPZ Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany; Institute of Cell and Neurobiology, Charité - Universitätsmedizin Berlin, Campus Mitte, Charitéplatz 1, 10115 Berlin, Germany. Electronic address: sarrazinelisabeth@gmail.com.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Sarrazin
authors.affiliation: Department of Pediatric Neurology, Universitätskinderklinik der TU Dresden, Germany.
authors.forename: Maja
authors.initials: M
authors.lastname: von der Hagen
authors.affiliation: Department of Pediatric Neurology, Universitätskinderklinik Essen, Germany.
authors.forename: Ulrike
authors.initials: U
authors.lastname: Schara
authors.affiliation: SPZ Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.
authors.forename: Katja
authors.initials: K
authors.lastname: von Au
authors.affiliation: Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany; SPZ Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany; Institute of Cell and Neurobiology, Charité - Universitätsmedizin Berlin, Campus Mitte, Charitéplatz 1, 10115 Berlin, Germany.
authors.forename: Angela M
authors.initials: AM
authors.lastname: Kaindl
mesh_terms: D000293:Adolescent; D001827:Body Height / Q000502:physiology; D001835:Body Weight / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology / Q000235:genetics / Q000503:physiopathology*; D005838:Genotype; D006128:Growth / Q000502:physiology*; D048788:Growth and Development / Q000235:genetics*; D006257:Head / Q000254:growth & development; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D007859:Learning Disabilities / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000150:complications / Q000473:pathology / Q000503:physiopathology*; D010641:Phenotype; D012189:Retrospective Studies
keywords: DMD; Duchenne; Growth; Head circumference; Height